Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
<p>Abstract</p> <p>Background</p> <p>Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype inter...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2011-04-01
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| Series: | Molecular Cytogenetics |
| Online Access: | http://www.molecularcytogenetics.org/content/4/1/9 |
| _version_ | 1811318012385427456 |
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| author | Sakati Nadia Al-Odaib Ali Al-Habit Ola Colak Dilek Alshidi Tarfa A AbuDheim Nada Al-Dosari Naji Al-Zahrani Jawaher Meyer Brian Ozand Pinar T Kaya Namik |
| author_facet | Sakati Nadia Al-Odaib Ali Al-Habit Ola Colak Dilek Alshidi Tarfa A AbuDheim Nada Al-Dosari Naji Al-Zahrani Jawaher Meyer Brian Ozand Pinar T Kaya Namik |
| author_sort | Sakati Nadia |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date.</p> <p>Results</p> <p>We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH) and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12)(q24.31q24.33) in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes.</p> <p>Conclusions</p> <p>Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, <it>P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8</it>, and <it>TBX3 </it>are noteworthy since they may have a role in observed phenotype.</p> |
| first_indexed | 2024-04-13T12:18:32Z |
| format | Article |
| id | doaj.art-7ed7c61239bb44c590e4a86801bd1ce2 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-13T12:18:32Z |
| publishDate | 2011-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-7ed7c61239bb44c590e4a86801bd1ce22022-12-22T02:47:17ZengBMCMolecular Cytogenetics1755-81662011-04-0141910.1186/1755-8166-4-9Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defectsSakati NadiaAl-Odaib AliAl-Habit OlaColak DilekAlshidi Tarfa AAbuDheim NadaAl-Dosari NajiAl-Zahrani JawaherMeyer BrianOzand Pinar TKaya Namik<p>Abstract</p> <p>Background</p> <p>Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date.</p> <p>Results</p> <p>We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH) and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12)(q24.31q24.33) in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes.</p> <p>Conclusions</p> <p>Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, <it>P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8</it>, and <it>TBX3 </it>are noteworthy since they may have a role in observed phenotype.</p>http://www.molecularcytogenetics.org/content/4/1/9 |
| spellingShingle | Sakati Nadia Al-Odaib Ali Al-Habit Ola Colak Dilek Alshidi Tarfa A AbuDheim Nada Al-Dosari Naji Al-Zahrani Jawaher Meyer Brian Ozand Pinar T Kaya Namik Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects Molecular Cytogenetics |
| title | Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects |
| title_full | Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects |
| title_fullStr | Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects |
| title_full_unstemmed | Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects |
| title_short | Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects |
| title_sort | chromosome 12q24 31 q24 33 deletion causes multiple dysmorphic features and developmental delay first mosaic patient and overview of the phenotype related to 12q24qter defects |
| url | http://www.molecularcytogenetics.org/content/4/1/9 |
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